Muscular dystrophy

Muscular dystrophy presents challenges for families, but with the right treatment, children can live life to its fullest.

To deliver all the health care your child needs, our pediatric neurologists partner with top specialists across Advocate Children’s Hospital. We provide customized treatment plans, with expert care and services that support you and your family for the long term.

What is muscular dystrophy (MD)?

Muscular dystrophy refers to a group of rare genetic disorders that cause muscles to weaken and break down over time. Various types of MD affect muscles in specific areas, and symptoms of the most common forms begin in childhood.

Early treatment helps manage symptoms of muscular dystrophy in children and slow the progression of muscular dystrophy, though the disease currently has no cure. Some children have mild symptoms that slowly worsen throughout their lifetimes. Others experience more severe symptoms and disability.

What causes muscular dystrophy?

Each type of muscular dystrophy results from mutations in specific genes with the changes typically inherited.

For some types of muscular dystrophies, the disease can develop if just one parent passes on a mutated gene. For other types, a child needs to inherit the genetic change from both parents. If the child receives just one changed gene, they won’t develop disease but can still pass the mutation to the next generation.

The most common types of MD, Duchenne and Becker, result from mutations in a gene that normally helps maintain healthy muscles. The gene sits on the X chromosome. Because boys only have one X chromosome, they’re much more likely to develop disease. Duchenne most commonly occurs in boys under age 5, and Becker in boys in their teens to early 20s.

Muscular dystrophy symptoms and signs

Muscle weakness that gradually worsens is the most noticeable sign of muscular dystrophy. The specific muscle groups affected depend on the type. Children who have Duchenne and Becker experience similar symptoms, including:

Muscle symptoms

• Decreased muscle size
• Delayed growth
• Muscle pain and stiffness

Difficulty with movement

• Delayed walking
• Difficulty getting up when seated or lying down (Gowers’ sign)
• Difficulty running and jumping
• Frequent falls
• Problems walking such as toe walking or waddling

With Duchenne, symptoms usually appear in early childhood and are more severe. Symptoms of Becker are milder and begin to appear in the teens to early 20s. Some children with muscular dystrophy also have learning disabilities, more commonly with Duchenne than with Becker.

Muscular dystrophy diagnosis

A specialist from our neurology program meets with you and your child for a complete evaluation. We ask about your child’s symptoms and medical history, including any family history of muscular dystrophy. The muscular dystrophy specialist then does a physical exam and runs one or more tests to help confirm a diagnosis. Find out more about what to expect in your visit.

Tests for muscular dystrophy include:

• Blood tests: We check the level of creatine kinase (CK), an enzyme released when muscles get damaged, using a small sample of blood.
• Biopsy: The doctor takes a small sample of muscle through an incision or a needle for further evaluation. Using a microscope, we look at the protein tied to Duchenne and Becker muscular dystrophies.
• Genetic testing: If we suspect that your child has muscular dystrophy, we refer you to a genetic counselor. Genetic testing can identify the gene mutations related to muscular dystrophy. Read more about our genetics program.
• Electromyogram (EMG): We insert a thin needle, about the size of those used in acupuncture, into one of your child’s muscles. The doctor asks your child to move and then relax the muscle while the needle records its electrical activity. A poor muscle response may indicate MD. The needle only measures and does not send electrical current.
• Nerve conduction velocity (NCV) study: We place electrodes (small, sticky pads) on your child’s arm or leg. The electrodes send a mild electrical current, similar to static electricity, through nerves in the muscle. An NCV study shows how fast the electrical signal traveled through nerves. A slow response may indicate nerve damage tied to MD.
• Electrocardiogram (EKG): We place electrodes on your child’s chest to measure the heart’s electrical signals. An EKG can detect irregular heartbeats, damage to the heart muscle and other heart symptoms.
• Echocardiogram (echo): An echo is an ultrasound of the heart, using sound waves to check for thickening or other damage to heart muscle.

Muscular dystrophy specialist team

Because muscular dystrophy affects multiple muscle groups – including heart and breathing muscles – your child may need care drawn from several medical fields. Advocate Children’s Hospital offers the complete range of required doctors, all with pediatric training and experience.

A neurologist manages your child’s treatment and coordinates care and services with other specialists in our Pediatric Neuromuscular Disorder Clinic. We can often schedule multiple specialists together in one visit, so it’s easy to meet with our team.